Application of PCR site-directed mutagenesis for a rapid and accurate detection of mutation 3500 (Arg-->Gln) of human apolipoprotein B-100.

doi:10.1006/mcpr.1994.1037

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Article

Application of PCR site-directed mutagenesis for a rapid and accurate detection of mutation 3500 (Arg-->Gln) of human apolipoprotein B-100.

Molecular and cellular probes - 1 Jun 1994

Richard P, de Zulueta M P, Weill F, Cassaigne A, Iron A

Abstract excerpt

A rapid detection of the Arg3500-->Gln mutation of human apolipoprotein B-100 is of particular interest because of its prevalence in familial forms of hypercholesterolemia. A simple procedure, based on amplification by polymerase chain reaction (PCR) and NlaIII endonuclease restriction cleavage, allows this diagnosis without ambiguity. By using two oligonucleotide primers carrying one mismatch each, two permanent...

Topics

Alleles
Apolipoprotein B-100
Apolipoproteins B
Arginine
Base Sequence
DNA
DNA Restriction Enzymes
Electrophoresis, Agar Gel
Electrophoresis, Polyacrylamide Gel
Glutamine
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Hypercholesterolemia

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 7969202
DOI: 10.1006/mcpr.1994.1037

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7969202-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Application of PCR site-directed mutagenesis for a rapid and accurate detection of mutation 3500 (Arg-->Gln) of human apolipoprotein B-100.PMID 7969202Read ↗

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